Severe Phenotype of Keratitis–Ichthyosis–Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia

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Purpose:The aim of this study was to describe a case of severe keratitis–ichthyosis–deafness (KID) syndrome with ocular surface squamous neoplasia.Methods:The affected patient underwent complete ocular and systemic examinations. The molecular studies included polymerase chain reaction amplification and automated DNA sequencing of the complete gap junction beta-2 (GJB2) gene coding sequence.Results:A 30-year-old man presented with generalized erythro-hyperkeratosis and deafness and complaints of decreased visual acuity, tearing, and photophobia. Ophthalmic examination showed corneal erosion, vascularization, and a gray gelatinous lesion partially covering the right cornea, suggestive of squamous neoplasia. The clinical features were characteristic of KID syndrome. This diagnosis was confirmed with a DNA analysis showing the pathogenic variant p.D50N in the GJB2 gene. Presumed squamous neoplasia was treated with topical interferon α2b.Conclusions:KID syndrome is a very rare disease that has been reported with an incremental incidence of squamous cell carcinoma of the mucous membranes and skin (12%–15%). Here, we presented a case of severe systemic KID syndrome with ocular surface squamous neoplasia.

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